Secondary Findings in a Large Pakistani Cohort Tested with Whole Genome Sequencing

Overview

Journal Life Sci Alliance

Specialties Biochemistry
Biology
Cell Biology
Molecular Biology

Date 2023 Jan 12

PMID 36635046

Authors

Aliaksandr Skrahin

Huma Arshad Cheema

Maqbool Hussain

Nuzhat Noureen Rana

Khalil Ur Rehman

Raman Kumar

Gabriela Oprea

Najim Ameziane

Arndt Rolfs

Volha Skrahina

Affiliations

Soon will be listed here.

Abstract

Studies on genomic secondary findings (SFs) are diverse in participants' characteristics, sequencing methods, and versions of the ACMG SF list. Based on whole genome sequencing and the version 3.1 of the ACMG SF list, we studied SFs in 863 individuals from five different regions in Pakistan. We identified 24 ACMG SFs in 23 (2.7%) of 863 individuals: 18 of 24 were related to cardiovascular disease and four to cancer syndromes. In addition to ACMG SFs, we identified 16 (1.9%) participants with pathogenic and likely pathogenic variants in genes that were not related to the participants' clinical conditions but with clear medical actionability (non-ACMG SFs): 4 of 16 were related to eye diseases, two to metabolic disorders, and two to urinary system disorders. By testing a large Pakistani cohort with whole genome sequencing, we concluded that in countries such as Pakistan, the ACMG SF list could be expanded, and our non-ACMG SF list is one example.

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